ABCC7 p.Arg553Lys
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No.
Sentence
Comment
59
Genotypes N Percent ∆F508/∆F508 ∆F508/R1162X ∆F508/G85E ∆F508/G542X ∆F508/5T ∆F508/R334W ∆F508/1303X ∆F508/R1066C ∆F508/Unknown ∆I507/2789+G-A R74W/D1270N N1303K/G542X N1303K/R553K -816C-T/5T 5T/Unknown G542X/Unknown R75Q/Unknown W1282X/Unknown Unknown/Unknown 8 3 3 3 2 2 1 1 11 1 1 1 1 1 2 2 2 1 6 15.4 5.8 5.8 5.8 3.9 3.9 1.9 1.9 21.2 1.9 1.9 1.9 1.9 1.9 3.9 3.9 3.9 1.9 11.5 All individuals had pulmonary symptoms.All those carrying the ∆F508/∆F508 genotype had pancreatic insufficiency.
X
ABCC7 p.Arg553Lys 14963811:59:252
status: NEW
PMID: 22210114
[PubMed]
Dong Q et al: "Human-mouse cystic fibrosis transmembrane conductance regulator (CFTR) chimeras identify regions that partially rescue CFTR-DeltaF508 processing and alter its gating defect."
No.
Sentence
Comment
169
In addition, a variant that combined G550E with R553M and R553K increased processing and current, although the effect on channel kinetics was not tested (33).
X
ABCC7 p.Arg553Lys 22210114:169:58
status: NEW
PMID: 24855632
[PubMed]
Kirby EF et al: "Enhancing the Potency of F508del Correction: A Multi-Layer Combinational Approach to Drug Discovery for Cystic Fibrosis."
No.
Sentence
Comment
67
In contrast, combined second-site suppressor mutations R553K/R555K (2RK) in NBD1 not only alter the protease susceptibility of NBD1 but also that of other domains of F508del CFTR.
X
ABCC7 p.Arg553Lys 24855632:67:55
status: NEW